Mutations in GBA1, the gene mutated in Gaucher disease, are a common genetic risk factor for Parkinson disease, although the penetrance is low. We performed [18F]‐fluorodopa positron emission tomography studies of 57 homozygous and heterozygous GBA1 mutation carriers (15 with parkinsonism) and 98 controls looking for early indications of dopamine loss using voxelwise analyses to identify group differences in striatal [18F]‐fluorodopa uptake (Ki). Forty‐eight subjects were followed longitudinally. Cross‐sectional and longitudinal comparisons of Ki and Ki change found significant effects of Parkinson disease. However, at baseline and over time, striatal [18F]‐fluorodopa uptake in mutation carriers without parkinsonism did not significantly differ from controls. ANN NEUROL 2020;87:652–657

中文翻译：

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GBA1 突变受试者多巴胺合成的纵向正电子发射断层扫描

GBA1 中的突变，即戈谢病中突变的基因，是帕金森病的常见遗传风险因素，尽管外显率较低。我们对 57 名纯合子和杂合子 GBA1 突变携带者（15 名患有帕金森综合征）和 98 名对照进行了 [18F]-氟多巴正电子发射断层扫描研究，使用体素分析来确定纹状体 [18F]-氟多巴摄取的组间差异，以寻找多巴胺丢失的早期迹象（淇）。纵向跟踪了 48 名受试者。Ki 和 Ki 变化的横断面和纵向比较发现帕金森病的显着影响。然而，在基线和随着时间的推移，没有帕金森病的突变携带者的纹状体 [18F]-氟多巴摄取与对照组没有显着差异。神经网络 2020;87:652–657